Neurofibromatosis (NF), one of the commonest phakomatoses, is
characterized by varied clinical manifestations. Segmental NF is one of
the uncommon subtypes of NF. We report a young adult presenting with
asymptomatic skin lesions- neurofibromas and café-au-lait macules-
over localized areas of the lower back, affecting more than one
segment. None of the family members were found to have features of
segmental NF. Segmental NF may be misdiagnosed as a birthmark or remain
undiagnosed for long periods of time, as the patients are often
asymptomatic. Moreover, the clinical features are highly variable and
range from a small area of skin involvement to involvement over the
entire half of the body. This variation is explained by the fact that
segmental NF is thought to arise from a postzygotic NF1 gene mutation,
leading to somatic mosaicism. We have also reviewed the relevant
literature on this subject.